Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

Abstract Background Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variants in 20 Chinese families with FEVR. Methods All available family members underwent detailed ophthalmological exami...

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Bibliographic Details
Main Authors: Handong Dan, Dongdong Wang, Zixu Huang, Qianqian Shi, Miao Zheng, Yuanyuan Xiao, Zongming Song
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Medical Genomics
Subjects:
Familial exudative vitreoretinopathy
Whole exome sequencing
NDP
FZD4
LRP5
TSPAN12
Online Access:https://doi.org/10.1186/s12920-022-01204-0

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